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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:multiple epiphyseal dysplasia 4
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Accession:DOID:0070300 term browser browse the term
Definition:A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)
Synonyms:exact_synonym: EDM4;   MED4;   Multiple epiphyseal dysplasia with bilayered patellae;   Multiple epiphyseal dysplasia with clubfoot;   Multiple epiphyseal dysplasia with double-layered patella;   autosomal recessive multiple epiphyseal dysplasia;   multiple epiphyseal dysplasia with bilateral patellae;   polyepiphyseal dysplasia type 4;   rMED
 primary_id: MESH:C535504;   OMIM:226900
 xref: GARD:9793;   ORDO:93307
For additional species annotation, visit the Alliance of Genome Resources.



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multiple epiphyseal dysplasia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc26a2 solute carrier family 26 member 2 ISO DN A:mutations:intron,exon:-26+2T>C,837C>T(p.R279W)(human)
ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with bilayered patellae | ClinVar Annotator: match by term: Multiple epiphyseal dysplasia with double-layered patella
OMIM
ClinVar
RGD
PMID:7695699 PMID:7923357 PMID:8218237 PMID:8528239 PMID:8571951 More... RGD:13208864 NCBI chr18:54,648,276...54,666,627
Ensembl chr18:54,652,951...54,666,626
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18156
    Developmental Disease 12940
      bone development disease 1875
        osteochondrodysplasia 614
          multiple epiphyseal dysplasia 11
            multiple epiphyseal dysplasia 4 1
Path 2
Term Annotations click to browse term
  disease 18156
    disease of anatomical entity 17531
      musculoskeletal system disease 7230
        connective tissue disease 5120
          bone disease 3800
            bone development disease 1875
              osteochondrodysplasia 614
                multiple epiphyseal dysplasia 11
                  multiple epiphyseal dysplasia 4 1
paths to the root